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pro vyhledávání: '"Alice de Froidmont"'
Autor:
Kevin Jehasse, Kathleen Jacquerie, Alice de Froidmont, Camille Lemoine, Thierry Grisar, Katrien Stouffs, Bernard Lakaye, Vincent Seutin
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
ABSTRACT Background Myotonia congenita (MC) is a common channelopathy affecting skeletal muscle and which is due to pathogenic variants within the CLCN1 gene. Various alterations in the function of the channel have been reported and we here illustrat
Externí odkaz:
https://doaj.org/article/ec39990f9d6c40aa8b1c45daed7fc1fa
Autor:
Vincent Seutin, Thierry Grisar, Katrien Stouffs, Kevin Jehasse, Alice de Froidmont, Camille Lemoine, Kathleen Jacquerie, Bernard Lakaye
Publikováno v:
Molecular Genetics & Genomic Medicine, Vol 9, Iss 2, Pp n/a-n/a (2021)
Molecular Genetics & Genomic Medicine
Molecular Genetics & Genomic Medicine
Background Myotonia congenita (MC) is a common channelopathy affecting skeletal muscle and which is due to pathogenic variants within the CLCN1 gene. Various alterations in the function of the channel have been reported and we here illustrate a novel
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=doi_dedup___::49b822773584624baa0de27a4a940371
https://doaj.org/article/ec39990f9d6c40aa8b1c45daed7fc1fa
https://doaj.org/article/ec39990f9d6c40aa8b1c45daed7fc1fa